Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.

OBJECTIVES: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder that is characterized by a segmental dermatomal facial port-wine stain birthmark and is frequently accompanied by ipsilateral brain and eye abnormalities. We present a case of a patient with SWS who exhibited hypogonadotropic hypogonadism, growth hormone (GH) deficiency, and central hypothyroidism at the age of 20 despite the absence of radiographic findings in the pituitary and hypothalamus. CASE PRESENTATION: A 20-year-old male with SWS with epilepsy and Klippel-Trenaunay syndrome presents with delayed pubertal development, short stature, and obesity. Upon further examination, he was found to have biochemical and clinical evidence of hypogonadism, hypothyroidism, and GH deficiency. A pituitary MRI displayed no abnormalities of the pituitary or hypothalamus. Treatment with testosterone cypionate and levothyroxine was initiated. Despite successful pubertal induction, IGF-1 levels have remained low and treatment with recombinant human growth hormone (rhGH) is now being considered for metabolic benefits. CONCLUSIONS: This case emphasizes the importance of endocrine evaluation and treatment of hormonal deficiencies in patients with SWS despite the absence of radiographic findings.

Port-wine-stain-associated dermatitis: implications for cutaneous vascular laser therapy.

Port-wine stains are congenital vascular malformations affecting 0.3% to 0.5% of infants. Dermatitis occurring exclusively or most severely within port-wine stains has been described in the literature. Traditionally, topical corticosteroid therapy has been used for the treatment of dermatitis, while pulseddye laser treatment is considered a safe and effective means of lightening the appearance of congenital port-wine stains. To describe the development of port-wine stain-associated dermatitis as well as a rational treatment approach to these patients, we studied three children with facial, limb, or truncal port-wine stains who developed dermatitis within the congenital vascular malformation either prior to or during treatment with pulseddye laser. Laser therapy of dermatitis-affected areas was subsequently deferred pending resolution of the dermatitis with topical corticosteroid or topical calcineurin inhibitor treatment. While pulseddye laser therapy is an effective means of lightening port-wine stains and achieving lasting resolution of any associated dermatitis, this therapy to dermatitis-affected areas should be postponed until the inflammation resolves to minimize the risk of laser-associated adverse effects.

Use of erythema index imaging for systematic analysis of port wine stain skin response to laser therapy.

BACKGROUND AND OBJECTIVES: Quantitative methods to assess port wine stain (PWS) skin response to laser therapy are needed to improve therapeutic outcome. In this study, PWS skin erythema was analyzed using erythema index difference (DeltaEI: erythema index difference between PWS and normal skin) images before and after treatment to investigate systematically subject-dependent response to laser therapy. STUDY DESIGN/MATERIALS AND METHODS: Cross-polarized digital skin color images were acquired from 17 subjects with facial PWS and the associated DeltaEI images were computed. Qualitative and quantitative analyses of PWS skin erythema were performed with DeltaEI images, in which ranges of 40-6 and 5-0 represented PWS and normal skin, respectively. RESULTS: After laser therapy, we qualitatively observed a reduction in the DeltaEI values for all subjects. Regression fitting of DeltaEI values before and after PWS laser therapy was associated with strong positive linear correlation. CONCLUSIONS: The imaging modality and analysis method allowed systematic analysis of PWS skin erythema in response to laser therapy. PWS skin response was dependent on pretreatment DeltaEI values, suggesting that erythema can be utilized as an effective parameter to monitor PWS response to laser therapy.